Tetra-oligodactyly with bilateral aplasia and hypoplasia of long bones of upper and lower limbs: a variable manifestation of the syndrome of ectrodactyly with tibial aplasia.
We present, a family manifesting a variation of the syndrome of ectrodactyly with tibial apasia. The principal case in the family showed the most severe bilateral skeletal malformations of this syndrome. The hand changes of this case (tetra-oligodactyly with missing 5th rays) and of a relative (oligodactyly with the last 3 rays being affected) reflected a variable manifestation of "ectrodactyly". Additionally, a review of the relevant literature is presented for further delineation of various aspects of this syndrome.
Sener
R N
RN
Private Hospital of Isparta, Turkey.
Sayli
B S
BS
Isikan
U E
UE
Ormeci
A R
AR
Unsal
M
M
Tigdemir
M
M
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D001132:Arm / Q000002:abnormalities; D001842:Bone and Bones / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007866:Leg / Q000002:abnormalities; D008297:Male; D013131:Spine / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities*